The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

Mitochondrial fatty acid oxidation disorders include conditions in which the transport of activated acyl-Coenzyme A (CoA) into the mitochondria or utilization of these substrates is disrupted or blocked. This results in a deficit in the conversion of fat into energy. Most patients with fatty acid oxidation defects are now identified through…

Children with autism spectrum disorders (ASD) have unique developmental and behavioral phenotypes, and they have specific challenges with communication, social skills, and repetitive behaviors. At this time, no single etiology for ASD has been identified. However, evidence from family studies and linkage analyses suggests that genetic factors play…

Faced with the limitations of currently available mainstream medical treatments and interventions, parents of children with neurodevelopmental disorders often seek information about unproven interventions. These interventions frequently have undetermined efficacy and uncertain safety profiles. In this article, we present a general background and…

Understanding the pharmacokinetics and pharmacodynamics of drugs used in psychopharmacology across the pediatric age spectrum from infants to adolescents represents a major challenge for clinicians. In pediatrics, treatment protocols use either standard dose reductions for these drugs for children below a certain age or use less conventional…

The primary focus of pain research in intellectually disabled individuals is still on pain assessment. Several observational pain assessment scales are available, each with its own characteristics, its own target group and its own validated use. Observational studies report differences in the treatment of intra- and postoperative pain of…

Children with autism and autism spectrum disorders have a high rate of irritability and aggressive symptoms. In one study up to 20% of children with autism have symptoms of irritability and aggression including aggression, severe tantrums, and deliberate self injurious behavior (Lecavalier [2006] "J. Autism Dev. Disord." 36:1101-1114.). These…

The review presented here describes the state of the art of pharmacological treatment of aggression in subjects with mental retardation (MR) summing up results for both, children and adults. In general, psychopharmacological treatment of disruptive behavior in individuals with MR is similar to the treatment in subjects without MR. Compared to…

Developmental disorders such as subaverage intelligence, pervasive developmental disorders, and genetic syndromes are frequently associated with comorbid attention-deficit/hyperactivity disorder (ADHD) or ADHD-like symptoms. While there are not pharmacological cures for these developmental disorders, coinciding ADHD and ADHD-like symptoms that…

With advances in obstetric and perinatal management, the incidence of intraventricular hemorrhage in premature infants has declined, while periventricular leukomalacia remains a significant concern. It is now known that brain injury in children born preterm also involves neuronal-axonal disease in supratentorial and infratentorial structures. The…

Quality of life (QOL) is an important concept for individuals with chronic health conditions. Measuring and supporting QOL in children, adolescents, and adults with spina bifida (SB) may be especially unique given the broad range of complex health and rehabilitative challenges they encounter. This article provides a research update on (a)…

Mitochondrial respiratory chain disorders are a group of genetically and clinically heterogeneous disorders caused by the biochemical complexity of mitochondrial respiration and the fact that two genomes, one mitochondrial and one nuclear, encode the components of the respiratory chain. These disorders can manifest at birth or present later in…

Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears…

Spina bifida (SB) is a neural tube defect diagnosed before or at birth that is associated with a high incidence of math disability often without co-occurring difficulties in reading. SB provides an interesting population within which to examine the development of mathematical abilities and disability across the lifespan and in relation to the…

Neurofibromatosis, type 1 (NF-1) is a common genetic disorder affecting 1 in 3,500-4,000 individuals in the world. Mutations of the NF-1 gene produce a myriad of physical, medical, and psychological manifestations. Although there is a very high degree of variability in the manifestations between individuals with NF-1, the majority of children and…